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autosomal dominant hypocalcemia

^ http://purl.obolibrary.org/obo/MONDO_0018543

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria. [ Orphanet:428 ]

Term info

database cross reference
  • OMIMPS:601198 (MONDO:equivalentTo)
  • SCTID:711152006 (MONDO:equivalentTo)
  • DOID:0090109 (MONDO:equivalentTo)
  • UMLS:CN205077 (MONDO:equivalentTo)
  • Orphanet:428 (MONDO:equivalentTo)
  • GARD:0002877 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_clinical_subtype

definition

Autosomal dominant hypocalcemia (AD hypocalcemia) is a disorder of calcium homeostasis characterized by variable degrees of hypocalcemia with abnormally low levels of parathyroid hormone (PTH) and persistant normal or elevated calciuria.

exactMatch

http://purl.obolibrary.org/obo/DOID_0090109, https://omim.org/phenotypicSeries/PS601198, http://purl.obolibrary.org/obo/Orphanet_428, http://linkedlifedata.com/resource/umls/id/CN205077, http://identifiers.org/snomedct/711152006

has broad synonym

hypocalcemia

has exact synonym

AD hypocalcemia, hypocalcemia, autosomal dominant

id

MONDO:0018543

seeAlso

https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant